Software Packages for Detecting HRD Scores in Tumor-Only Cancer Samples

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Question:

can you tell me or suggest some software packages or pipelines for detect hrd scores in tumor only (without matched normal) samples in cancer?

Answer:

Detecting homologous recombination deficiency (HRD) scores in tumor-only samples (without matched normal) can be challenging, but there are several software packages and pipelines that have been developed to address this. Here are some options you might consider:

  1. HRDetect:

    • Description: HRDetect is a machine learning-based tool that integrates multiple types of genomic data to predict HRD status.
    • Input: Whole-genome sequencing (WGS) data.
    • Link: HRDetect GitHub
  2. ScarHRD:

    • Description: ScarHRD is a tool that quantifies HRD based on the presence of specific genomic scars, such as loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST).
    • Input: Copy number variation (CNV) data from WGS or whole-exome sequencing (WES).
    • Link: ScarHRD GitHub
  3. CHORD:

    • Description: CHORD is a classifier that uses mutational signatures to predict HRD status. It can work with both WGS and WES data.
    • Input: Somatic mutation data.
    • Link: CHORD GitHub
  4. SigMA:

    • Description: SigMA (Signature Mutational Analysis) is a tool that can identify mutational signatures associated with HRD from WES data.
    • Input: Somatic mutation data.
    • Link: SigMA GitHub
  5. LOHHLA:

    • Description: LOHHLA (Loss Of Heterozygosity in Human Leukocyte Antigen) is a tool that can be used to detect LOH events, which are indicative of HRD.
    • Input: WES or targeted sequencing data.
    • Link: LOHHLA GitHub
  6. FACETS:

    • Description: FACETS (Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing) is a tool for allele-specific copy number analysis, which can be used to infer HRD.
    • Input: WES or targeted sequencing data.
    • Link: FACETS GitHub
  7. Battenberg:

    • Description: Battenberg is a tool for allele-specific copy number analysis and can be used to detect LOH and other genomic alterations indicative of HRD.
    • Input: WGS data.
    • Link: Battenberg GitHub
  8. HRDscore:

    • Description: HRDscore is a tool that calculates an HRD score based on the presence of LOH, TAI, and LST.
    • Input: CNV data from WGS or WES.
    • Link: HRDscore GitHub

When using these tools, it's important to carefully read the documentation and understand the input requirements and limitations. Additionally, some tools may